Variant ID: 14-73572776-C-A


This variant was identified in 1 publication


Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: RBM25: A455D
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000261973.7 c.1364C>A p.Ala455Asp missense_variant 11/19 -
ENST00000527432.1 c.1364C>A p.Ala455Asp missense_variant 12/20 -
ENST00000528081.1 c.*916C>A - 3_prime_UTR_variant,NMD_transcript_variant 10/18 -
ENST00000532683.1 n.4984C>A - non_coding_transcript_exon_variant 10/17 -
NM_021239.3 c.1364C>A p.Ala455Asp missense_variant 11/19 -